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Scientists have discovered the process of ALS, aka, Lou Gehrig’s disease or motor neurone disease.  All ALS has now been linked to a problem with a specific protein.  Now a new field of research can begin to find treatments to help the affected protein function properly.  From the story:

Feinberg School scientists found the cause of ALS by discovering a protein, ubiquilin2, whose critical job is to recycle damaged or misfolded proteins in motor and cortical neurons and shuttle them off to be reprocessed.  In people with ALS, Feinberg researchers found ubiquilin2 isn’t doing its job. As a result, the damaged proteins and ubiquilin2 loiter and accumulate in the motor neurons in the spinal cord and cortical and hippocampal neurons in the brain. The protein accumulations resemble twisted skeins of yarn — characteristic of ALS — and cause the degeneration of the neurons.

Researchers found ubiquilin2 in these skein-like accumulations in the spinal cords of ALS cases and in the brains of ALS/dementia cases. The scientists also discovered mutations in ubiquilin2 in patients with familial ALS and familial ALS/dementia. But the skein-like accumulations were present in people’s brains and spinal cords in all forms of ALS and ALS/dementia, whether or not they had the gene mutation.

And here’s a link to the Abstract in Nature.

Understanding how a disease works is an essential step into finding effective treatments.  Hope!

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